Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs1555535032 | 0.882 | 0.120 | 17 | 31338734 | frameshift variant | TTAC/- | delins | 9 | |||
rs1057516037 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 4 | ||||
rs1555741826 | 0.776 | 0.280 | 19 | 49601646 | frameshift variant | TGCC/- | delins | 16 | |||
rs1553370918 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 6 | |||
rs1569148952 | X | 37991160 | frameshift variant | TG/- | del | 1 | |||||
rs1569525894 | 0.790 | 0.280 | X | 136040055 | frameshift variant | TCTTCCTTAACCACCGC/- | delins | 14 | |||
rs746040003 | 13 | 114018810 | frameshift variant | TCAG/- | delins | 1.6E-05 | 1 | ||||
rs1569355102 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 51 | |||
rs797044525 | 0.925 | 21 | 37490244 | missense variant | T/G | snv | 9 | ||||
rs869312687 | 0.925 | 0.080 | 1 | 155910695 | missense variant | T/G | snv | 8 | |||
rs1563293555 | 8 | 42930130 | missense variant | T/G | snv | 1 | |||||
rs1567966432 | 18 | 21383629 | missense variant | T/G | snv | 1 | |||||
rs1568105562 | 17 | 44559091 | missense variant | T/G | snv | 1 | |||||
rs397507531 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 18 | |||
rs1554643168 | 0.851 | 0.160 | 8 | 143818077 | splice acceptor variant | T/C;G | snv | 7 | |||
rs373730800 | 0.925 | 7 | 66995320 | missense variant | T/C;G | snv | 6.0E-05 | 4 | |||
rs1553770577 | 0.724 | 0.480 | 3 | 132675342 | missense variant | T/C | snv | 37 | |||
rs180177035 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 35 | |||
rs74799832 | 0.662 | 0.280 | 10 | 43121968 | missense variant | T/C | snv | 4.0E-06 | 33 | ||
rs1441937959 | 0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 | 20 | ||
rs139632595 | 0.807 | 0.160 | 4 | 121801465 | missense variant | T/C | snv | 6.0E-05 | 2.5E-04 | 19 | |
rs1057521737 | 0.827 | 0.240 | 22 | 41173768 | missense variant | T/C | snv | 11 | |||
rs143814221 | 0.882 | 0.160 | 5 | 42711306 | missense variant | T/C | snv | 2.7E-04 | 2.3E-04 | 8 | |
rs201430951 | 0.925 | 0.040 | 14 | 31599308 | missense variant | T/C | snv | 1.5E-04 | 5.6E-05 | 7 | |
rs1555548680 | 1.000 | 0.120 | 17 | 42216066 | missense variant | T/C | snv | 5 |